Definition

What is Fraser syndrome?

Fraser syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness.

In infants with Fraser syndrome, renal malformations may include improper development (dysplasia), underdevelopment (hypoplasia), or absence of one or both kidneys (unilateral or bilateral renal agenesis).

In affected males, one or both testes may fail to descend into the scrotum (cryptorchidism), the urinary opening (meatus) may be abnormally placed on the underside of the penis (hypospadias), and/or the penis may be abnormally small (micropenis).

Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicornate uterus). In addition, the folds of skin on either side of the vaginal opening (labia) may be abnormally fused.

Infants and children with Fraser syndrome may also have additional abnormalities including malformations of the middle and outer ear that may result in hearing impairment.

Fraser syndrome is inherited as an autosomal recessive genetic trait.

How common is Fraser syndrome?

Fraser syndrome is not common. Fraser syndrome affects males and females in equal numbers. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Fraser syndrome?

If an individual is affected with Fraser syndrome, then that individual will have visible physical abnormalities, which can include complete fusion of the eyelids causing a condition called as cryptophthalmos, missing kidneys, webbed fingers or toes.

Some of the other defects associated with Fraser syndrome are hair growth extending from forehead to eyebrows, malformation of eyelid ducts, widely spaced nipples, along with mental impairment. There may also be inadequate development of the genitals.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Fraser syndrome?

As stated, Fraser syndrome is an autosomal recessive disorder. The altered gene has been stated to be present in long arm of chromosome 4 (4q21). Chromosomes present in nucleus of human cells have genetic information for every person. By autosomal recessive, one means that the abnormality is inherited by the chromosomes of both parents.

Risk factors

What increases my risk for Fraser syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How isFraser syndrome diagnosed?

Diagnosis is usually made on a detailed physical examination and history taking, especially if there is a family history of Fraser syndrome. Confirmation of the diagnosis is pretty visible with the deformities mentioned above and can also be confirmed by imaging studies.

How is Fraser syndrome treated?

Treatment of Fraser syndrome mainly involves surgical procedure to correct the physical deformities involved with this Fraser syndrome. Apart from surgery, other treatments are generally supportive. Genetic counseling is usually beneficial for parents of children affected with this Fraser syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Fraser syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.